Varaico: Literature-Extracted Genetic Variants

LARGE1

77 papers

RefSeq Summary

This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthes...

Pfam Domains

Glyco_transf_8aa 140–387UCSCGlycosyl transferase family 8

Glyco_transf_49aa 473–540UCSCGlycosyl-transferase for dystroglycan

Glyco_transf_49aa 520–743UCSCGlycosyl-transferase for dystroglycan

Gene Aliases

HGNC Name

LARGE xylosyl- and glucuronyltransferase 1

HGNC Alias Symbol

KIAA0609

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_133642.5

p.E652A

c.1955A>C

Surrounding Variants

1 paper

NM_133642.5

p.R650Q

c.1949G>A

1 paper

NM_133642.5

p.A645T

c.1933G>A

4 papers

NM_133642.5

p.R665H

c.1994G>A

1 paper

NM_133642.5

p.P668T

c.2002C>A

1 paper

NM_133642.5

p.H634H

c.1902C>T

1 paper

NM_133642.5

p.R672W

c.2014C>T

1 paper

NM_133642.5

p.T631T

c.1893G>A

1 paper

NM_133642.5

p.Q691H

c.2073G>T

1 paper

NM_133642.5

p.E694K

c.2080G>A

1 paper

NM_133642.5

p.Y702F

c.2105A>T

1 paper

NM_133642.5

p.M703ins1

c.2107_2108insAGG

1 paper

NM_133642.5

p.P710A

c.2128C>G